UniProtKB/Swiss-Prot O15534: Variant p.Ala962Pro

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 962 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: LB/B The variants are classified into three categories: LP/P, LB/B and US.

• LP/P: likely pathogenic or pathogenic.
• LB/B: likely benign or benign.
• US: uncertain significance

Residue change: From Alanine (A) to Proline (P) at position 962 (A962P, p.Ala962Pro). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: Change from small size and hydrophobic (A) to medium size and hydrophobic (P) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: -1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

• Lowest score: -4 (low probability of substitution).
• Highest score: 11 (high probability of substitution).

More information can be found on the following page
Other resources: Links to websites of interest for the variant.

• Variant rs2585405 [ dbSNP | Ensembl ]

Sequence information

Variant position: 962 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1290 The length of the canonical sequence.
Location on the sequence: PAEGPPTPASHSPSPSLPAL A PSPPHRPDSPLFNSRCSSPL The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:

• Type: the type of sequence feature.
• Positions: endpoints of the sequence feature.
• Description: contains additional information about the feature.

Type	Positions	Description
Chain	1 – 1290	Period circadian protein homolog 1
Region	938 – 977	Disordered
Compositional bias	947 – 970	Pro residues
Modified residue	979 – 979	Phosphoserine
Modified residue	980 – 980	Phosphoserine
Alternative sequence	876 – 1290	Missing. In isoform 2.

Literature citations

Rigui, a putative mammalian ortholog of the Drosophila period gene.
Sun Z.S.; Albrecht U.; Zhuchenko O.; Bailey J.; Eichele G.; Lee C.C.;
Cell 90:1003-1011(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; ALTERNATIVE SPLICING; VARIANT PRO-962; Circadian oscillation of a mammalian homologue of the Drosophila period gene.
Tei H.; Okamura H.; Shigeyoshi Y.; Fukuhara C.; Ozawa R.; Hirose M.; Sakaki Y.;
Nature 389:512-516(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; TISSUE SPECIFICITY; VARIANT PRO-962; The human Per1 gene: genomic organization and promoter analysis of the first human orthologue of the Drosophila period gene.
Taruscio D.; Zoraqi G.K.; Falchi M.; Iosi F.; Paradisi S.; Di Fiore B.; Lavia P.; Falbo V.;
Gene 253:161-170(2000)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT PRO-962; The human and mouse Period1 genes: five well-conserved E-boxes additively contribute to the enhancement of mPer1 transcription.
Hida A.; Koike N.; Hirose M.; Hattori M.; Sakaki Y.; Tei H.;
Genomics 65:224-233(2000)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT PRO-962; Characterization of cDNA clones in size-fractionated cDNA libraries from human brain.
Seki N.; Ohira M.; Nagase T.; Ishikawa K.; Miyajima N.; Nakajima D.; Nomura N.; Ohara O.;
DNA Res. 4:345-349(1997)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT PRO-962; Submission
Mural R.J.; Istrail S.; Sutton G.G.; Florea L.; Halpern A.L.; Mobarry C.M.; Lippert R.; Walenz B.; Shatkay H.; Dew I.; Miller J.R.; Flanigan M.J.; Edwards N.J.; Bolanos R.; Fasulo D.; Halldorsson B.V.; Hannenhalli S.; Turner R.; Yooseph S.; Lu F.; Nusskern D.R.; Shue B.C.; Zheng X.H.; Zhong F.; Delcher A.L.; Huson D.H.; Kravitz S.A.; Mouchard L.; Reinert K.; Remington K.A.; Clark A.G.; Waterman M.S.; Eichler E.E.; Adams M.D.; Hunkapiller M.W.; Myers E.W.; Venter J.C.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT PRO-962; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT PRO-962;